P791 Glycogen Branching Enzyme Deficiency (GBED)

Background

Genetic researchers at the University of Minnesota have developed a DNA-test for a mutation in the Glycogen branching enzyme (GBED). Due to this mutation, the enzyme looses its function. The clinical time-of-onset of this disease may vary, resulting sometimes in late term abortion or stillbirth. In several cases, foals are born alive but are often weak. The foals may appear healthy for some time but eventually they develop seizures, become too weak or they die suddenly. Despite treatment, all known cases of GBED have been euthanized or died within half a year of age.

Test specific information

-

Age

Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.

Turnaround time

The Turnaround Time (TAT) depends on various factors, such as the shipment time of your sample to the test location, the test method(s) and whether the tests are performed completely or partially by a Partner Lab or Patent owner.

The TAT of tests performed at our facilities is normally 10 working days after receipt of the sample at the testing laboratory (VHL, VHP or Certagen). For tests performed by a Partner Laboratory (so-called "partner lab test") or patent owner, the TAT is at least 20 working days after receipt of your sample. Because the shipment time to our Partner Labs or patent owner may vary due to factors we cannot influence, the mentioned 20 working days are therefore an estimate.

PLEASE NOTESometimes it is necessary to re-run your sample. We call this a retest. In that case, the TAT will of course be extended.

Location of disease or trait

The disease is present in muscle. Depending on the effect, degeneration of muscle may take place. Alternatively, recovery following exercise may be deteriorated.

Breed dependence

For this test samples from all breeds are accepted.

Sample type

For this DNA test we accept the following materials: Hair, Semen, Blood EDTA, Blood Heparin, Tissue. Please contact Dr. Van Haeringen Laboratorium if you wish to submit other material as listed.

Result

An animal can be free and has in that situation two healthy alleles. When used in breeding this animal will not become ill due to the disease. It cannot spread the disease in the population.

An animal can be carrier and has in that situation one healthy and one disease allele. When used in breeding 50 percent of the offspring will receive the disease allele. Carriers will not become ill.

An animal can be affected and has in that situation two disease alleles. When used in breeding all offspring will also receive the disease allele. Affected will become ill.

Inheritance

This genetic factor is inherited in an autosomal, recessive, mode. This means, that the individual can be free of the disease (homozygote normal), affected (homozygous affected) or carrier (heterozygous).

Carriers may spread the mutation in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a mutation.